ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed.
- Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice.Nature human behaviour · 2025Review
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Performance of recommended management among pediatric patients identified through genomic screening.Translational behavioral medicine · 2025Observational
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Review
- Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.Circulation. Genomic and precision medicine · 2022Article
- Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.Journal of personalized medicine · 2022Article
- Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.BMC medicine · 2022Observational
- Addressing the routine failure to clinically identify monogenic cases of common disease.Genome medicine · 2022Review
- Amplifying Their Voices: Advice, Guidance, and Perceived Value of Cancer Biobanking Research Among an Older, Diverse Cohort.Journal of cancer education : the official journal of the American Association for Cancer Education · 2022Article
- Clinical validation of genomic functional screen data: Analysis of observedHGG advances · 2022Article
- A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Frontiers in genetics · 2022Article
- DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.Journal of personalized medicine · 2021Article
- Implementing genomic screening in diverse populations.Genome medicine · 2021Article
- Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.Journal of personalized medicine · 2021Article
- Clinical outcomes of a genomic screening program for actionable genetic conditions.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Observational
- Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
30 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeThe clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-associated cancers can help inform assessments of clinical utility.MethodsWhole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants. Clinically confirmed variants were disclosed to patient-participants and their clinicians. We queried patient-participants' electronic health records for BRCA1/2-associated cancer diagnoses and risk management that occurred within 12 months after results disclosure, and calculated the percentage of patient-participants of eligible age who had begun risk management.ResultsThirty-seven MyCode patient-participants were unaware of their pathogenic/likely pathogenic BRCA1/2 variant, had not had a BRCA1/2-associated cancer, and had 12 months of follow-up. Of the 33 who were of an age to begin BRCA1/2-associated risk management, 26 (79%) had performed at least one such procedure. Three were diagnosed with an early-stage, BRCA1/2-associated cancer-including a stage 1C fallopian tube cancer-via these procedures.ConclusionScreening for pathogenic BRCA1/2 variants among unselected individuals can lead to occult cancer detection shortly after disclosure. Comprehensive outcomes data generated within our learning healthcare system will aid in determining whether population-wide BRCA1/2 genomic screening programs offer clinical utility.
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